A Rett diagnosis is devastating but you are not alone. Fellow parents have identified some key questions they had before, during and after their child's diagnosis:
What is Rett Syndrome and what causes it?
Rett Syndrome is a neurological or brain disorder which most often affects apparently healthy little girls around the age of 6-18 months. Early signs are autism like behaviours with the loss of speech and hand use. Your daughter might stop playing or interacting normally. Onset can be sudden or more subtle, where you can't quite remember the last time she waved or said a word. She may have unusual hand movements when she is awake; in Rett Syndrome, hands are usually clasped or held together in the middle of her body (midline) or she may wring them together or move them from hand to mouth. She may have other problems, such as strange breathing patterns, screaming episodes or sleep disturbances.
Rett Syndrome is named after Austrian doctor, Andreas Rett, who first identified the condition in 1966. It is as common as Huntington's Disease, although not very well known and occurs in 1:10,000 live female births. The condition is most often caused by mutations or faults in the gene MECP2. This gene is on the X chromosome which is why the condition most often affects girls.
There are four stages of Rett Syndrome. The condition is not degenerative as it was once thought to be. Degenerative means that there is progressive deterioration of nerve cells, leading to cell death; this does not occur in Rett Syndrome. The condition does however, usually follow a path of progression, where skills such as speech, hand use and mobility are lost. Most girls do not speak at all. Some have a few words. Some are left with some hand use. Some girls never walk, some girls learn to walk and lose it later and a few keep walking. There is no way to predict the severity of these different symptoms.
If you think your daughter has Rett Syndrome, make an appointment with your GP or Health Visitor. Make a list of her symptoms, write down how long each one has been going on. Include everything, however insignificant it may sound but stick to facts. Explain your concerns to a friend or family member and ask them to support you by going with you to the appointment. If you can, have someone attend with you who can help you manage your child whilst you explain what is going on to the doctor. Be clear. Tell the doctor what your concern is from the outset. Print a list of signs and symptoms and take it with you and go down the list methodically explaining your concerns in relation to your child.
How is Rett Syndrome diagnosed?
Your GP or Health Visitor should refer to you a general Community Paediatrician. The Community Paediatrician will assess and investigate your daughter's condition. At this stage, they may talk about developmental delay. You may be referred to a geneticist, neurologist or developmental paediatrician for further investigation.Rett Syndrome can be diagnosed through either behavioural observation or a genetic test (DNA screening/sequencing of the MECP2 gene), or both. Sometimes the diagnosis is made through observation of symptoms and confirmed by the genetic test and sometimes the testing happens first, especially in very young children who are not yet showing clear signs of the condition.
Although there is a genetic test, Rett Syndrome is still a clinical diagnosis. Whilst 95% of girls have one of two hundred currently identified mutations, sometimes it is not possible to identify a mutation even when girls have the typical combination of symptoms and the condition develops in a way which is characteristic of Rett Syndrome. If your daughter has a clinical diagnosis of Rett but no identified mutation, you are not alone.
Where can I get her tested for an MECP2 mutation?
If you think that your daughter may have Rett Syndrome, explain this to your paediatrician or other clinicians you are working with as per the guidance above and request a referral for MECP2 screening.
Does she have brain damage?
Girls with Rett Syndrome do not have structural brain damage. In the UK, they are often assumed to have severe learning disabilities. Any human who cannot use their hands, speak or move freely is going to have trouble convincing others of their understanding. As more research into the underlying causes and mechanisms of the disorder are coming to light, it is more apparent that the cognitive abilities of patients with Rett Syndrome have been underestimated for decades.
Will she end up in a wheelchair?
Some girls with Rett Syndrome never walk. Some walk and lose their mobility at a later stage or slowly over time and a few keep walking throughout their lives. Rett syndrome is a disease that will progress slowly throughout your child’s life. However, the speed at which Rett syndrome progresses in a given child and the severity of symptoms can vary.
What can I do to help her?
Girls with Rett Syndrome usually have a variety of health issues that need intervention. A large part of helping her will involve managing her condition at home:
It's Important that your child sees specialists to help maintain and develop skills where possible:
It's generally best to try to 'practice' or carry over therapy techniques at home but remember to take breaks. (Both of you)
My daughter has Rett Syndrome. Should I have pre-natal testing when I have another baby?
In 99.5% of cases, Rett Syndrome is caused by a spontaneous mutation in a single sperm. This means that in most cases, even if you have a daughter with Rett already, you are only as likely as anyone else to have a daughter with Rett Syndrome.
On rare occasions, the mutation comes from the mother's eggs. This could happen for either of the following reasons:
The mother's eggs could have the mutation, known as germline mosaicism. Any children would have a 50% chance of inheriting the gene.
The mother has the mutation in every cell but due to favourable x-inactivation, she does not have Rett symptoms herself. Again, any children would have a 50% chance of inheriting the gene.
The risk to siblings depends upon the genetic status of the parents. When the mother of an affected individual is found to have the MECP2 mutation identified in her affected child, the risk to siblings of inheriting the mutation is 50%.
Some parents chose to be tested to see if they carry the same MECP2 mutation as their daughter themselves, before undergoing amniocentesis or chorionic villus sampling (CVS) as the risk of having another child with Rett, is much lower than the risk associated with these procedures.If a mutation is not identified in a parent, the risk to siblings is low. However, germline mosaicism cannot be excluded.
What will my daughter's life expectancy be?
It was once thought that girls with Rett Syndrome would live at most into their twenties but despite the difficult symptoms, many women with Rett Syndrome are now living well into middle age and beyond. Because the disorder is not well known and has been historically difficult to manage, not much is known about the true long term prognosis and life expectancy. Whilst there are women in their 40s with Rett Syndrome, currently it is not possible to make reliable estimates about life expectancy beyond the age of 40 (1).
Is there a cure?
There is currently no treatment for Rett Syndrome. Medicine can offer only supportive measures: feeding tubes, orthopaedic braces and surgeries and seizure medications which are often ineffective.
In 2007, Rett Syndrome was demonstrated to be reversible in mice, even in mice in the late stages of the disease, showing that the disease may not be as intractable as previously thought. Current research efforts are focused on a number of ways of developing treatment, from medication to help with specific symptoms to gene therapy and other approaches which address the underlying causes of the condition. You can read more about the research we support here.
If you have a daughter who has recently been diagnosed with Rett Syndrome, this message is for you.
1. Life expectancy information taken from http://www.ninds.nih.gov/disorders/rett/detail_rett.htm